Canonical Allele Identifier: CA347545261
Gene: POLR1A HGNC NCBI

Linked Data

gnomAD v4: 2-86030208-G-C
MyVariant Identifiers: chr2:g.86257331G>C (hg19) chr2:g.86030208G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030208G>C , CM000664.2:g.86030208G>C GRCh38
NC_000002.11:g.86257331G>C , CM000664.1:g.86257331G>C GRCh37
NC_000002.10:g.86110842G>C NCBI36
NG_050742.2:g.80948C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4767C>G MANE Select ENSP00000263857.6:p.Phe1589Leu
ENST00000263857.10:c.4767C>G ENSP00000263857.6:p.Phe1589Leu
ENST00000409681.1:c.4584C>G ENSP00000386300.1:p.Phe1528Leu
NM_015425.3:c.4767C>G NP_056240.2:p.Phe1589Leu
XM_006711983.2:c.4443C>G XP_006712046.1:p.Phe1481Leu
NM_015425.5:c.4767C>G NP_056240.2:p.Phe1589Leu
NM_015425.6:c.4767C>G MANE Select NP_056240.2:p.Phe1589Leu
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